Canonical Allele Identifier: PA645375420
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259482
ClinVar RCV Id: RCV000251573 RCV000277714 RCV000712420 RCV001094492 RCV002294138
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Arg408Gln
CA9390498
NM_004646.4:c.1223G>A